Varaico: Literature-Extracted Genetic Variants

Gene:AK2
Variant:p.M1V
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AK2

NM_001625.4:p.M1V

Associated Papers

Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.

Marakhonov AV et al.

Journal of Clinical Immunology, 2024

Recent advances in understanding the pathogenesis and management of reticular dysgenesis.

Hoenig M et al.

British Journal of Haematology, 2018

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.

Hoenig M et al.

Blood, 2017

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.

Pannicke U et al.

Nature Genetics, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."